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Neurological Disorders

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L-Ferritin deficiency
Aicardi-Goutières syndrome 1
Aicardi-Goutières syndrome 2
Aicardi-Goutières syndrome 3
Aicardi-Goutières syndrome 4
Aicardi-Goutières syndrome 5
Aicardi-Goutières syndrome 6
Alzheimer Disease
Amyloidosis hereditary transthyretin-related
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis 1
Amyotrophic lateral sclerosis 10 - ALS10
Amyotrophic lateral sclerosis 10 - with or without FTD
Amyotrophic lateral sclerosis 14 - ALS14
Amyotrophic lateral sclerosis 4 juvenile - ALS4
Amyotrophic lateral sclerosis 6 - ALS6
Amyotrophic lateral sclerosis type 9 - ALS9
Amyotrophy hereditary neuralgic
Angelman syndrome - AS
Ataxia-ocular apraxia 2-Spinocerebellar ataxia autosomal recessive 1- SCAR1
Brown-Vialetto-Van Laere syndrome 1
Brown-Vialetto-Van Laere syndrome 2 - Riboflavine transporter defect
Charcot Marie Tooth - CMT
Choreoathetosis hypothyroidism and neonatal respiratory distress
CNS Abnormalities
Congenital cataracts facial dysmorphism and neuropathy - CCFDN
Creutzfeldt Jakob disease
Cystic leukoencephalopathy without megalencephaly
Dementia - Lewy body
Distal hereditary motor neuropathy type 5 - DHMN
Dysautonomia familial - Riley Day syndrome
Dystonia 1 torsion - DYT1
Dystonia 11 myoclonic - DYT11
Dystonia 6 torsion - DYT6
Epileptic encephalopathy - early infantile - 11
Epileptic encephalopathy - early infantile - 25
Epileptic encephalopathy early infantile 2 - Rett syndrome atypical
Familial Amyloid Polyneuropathy
Fragile X syndrome
Fragile X tremor/ataxia syndrome
Frontotemporal Dementia - FTD
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 - FTDALS1
Frontotemporal lobar degeneration with ubiquitin-positive inclusions
Goiter familial due to TTF1 defect
Hereditary benign chorea
Hereditary motor and sensory neuropathy type IIc - HMSN2C
Hypomyelination with Spondylometaphyseal Dysplasia
Intellectual developmental disorder with dysmorphic facies and ptosis
Intellectual Disability
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Microcephaly
Microcephaly 1 primary autosomal recessive
Microcephaly 5 primary autosomal recessive
Microcephaly 6 primary autosomal recessive
Microcephaly 7 primary autosomal recessive
Myotubular myopathy X-linked
Neurodegeneration with brain iron accululation 5
Neurodegeneration with brain iron accumulation 1
neurodegeneration with brain iron accumulation 2A
Neurodegeneration with brain iron accumulation 2B
Neurodegeneration with brain iron accumulation 3
Neurodegeneration with brain iron accumulation 4
Neurodegeneration with brain iron accumulation 6
Neuropathy distal hereditary motor type IIA
Neuropathy distal hereditary motor type IIB
Neuropathy hereditary sensory and autonomic type IA - HSAN1A
Neuropathy hereditary sensory and autonomic type II - HSAN IIA
Neuropathy hereditary sensory and autonomic type V - HSAN V
Neuropathy recurrent with pressure palsies - HNPP
Parkinson Disease 1 Autosomal Dominant
Parkinson Disease 2 Autosomal Recessive
Parkinson Disease 4 Autosomal Dominant
Parkinson Disease 6 Autosomal Recessive
Parkinson Disease 7 Autosomal Recessive
Parkinson Disease 8 Autosomal Dominant
Peroxisome biogenesis disorder 10A
Peroxisome biogenesis disorder 11A
Peroxisome biogenesis disorder 12A
Peroxisome biogenesis disorder 13A
Peroxisome biogenesis disorder 14B
Peroxisome biogenesis disorder 1A
Peroxisome biogenesis disorder 3A
Peroxisome biogenesis disorder 4A
Peroxisome biogenesis disorder 5A
Peroxisome biogenesis disorder 6A
Peroxisome biogenesis disorder 7A
Peroxisome biogenesis disorder 8A
Pick disease
Pontocerebellar hypoplasia - PCH
Pontocerebellar hypoplasia type 1A - PCH1A
Pontocerebellar hypoplasia type 1B - PCH1B
Pontocerebellar hypoplasia type 2A - PCH2A
Pontocerebellar hypoplasia type 2B - PCH2B
Pontocerebellar hypoplasia type 2C - PCH2C
Pontocerebellar hypoplasia type 2D - PCH2D
Pontocerebellar hypoplasia type 4 - PCH4
Pontocerebellar hypoplasia type 6
Prader Willi syndrome - PWS
Rett syndrome
Rett syndrome congenital variant
Riboflavin deficiency
Scapuloperoneal spinal muscular atrophy
Spinal muscular atrophy
Tay Sachs disease
Treatable Metabolic Neurodegenerative Disorders
White Matter Disorders
Zellweger spectrum disorders
Zellweger syndrome

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Cancer Genetics
- Adenomas multiple colorectal
- Bannayan-Riley-Ruvalcaba Syndrome
- Basal Cell Nevus Syndrome – BCNS – Gorlin syndrome
- Birt-Hogg-Dubé syndrome
- Breast Cancer
- Breast-ovarian cancer – familial
- Chronic Lymphocytic Leukaemia (CLL)
- Cowden Syndrome
- Familial Adenomatous Polyposis – FAP
- Familial Adenomatous Polyposis – FAP1
- Familial nonpolyposis colon cancer – HNPCC – Lynch syndrome
- Familial nonpolyposis colon cancer – HNPCC – Lynch syndrome – Colorectal cancer hereditary nonpolyposis type 1
- Familial nonpolyposis colon cancer – HNPCC – Lynch syndrome – Colorectal cancer hereditary nonpolyposis type 2
- Familial nonpolyposis colon cancer – HNPCC – Lynch syndrome – Colorectal cancer hereditary nonpolyposis type 4
- Familial nonpolyposis colon cancer – HNPCC – Lynch syndrome – Colorectal cancer hereditary nonpolyposis type 5
- Hereditary Prostate Cancer – HPC9
- Juvenile polyposis syndrome – JPS
- Li-Fraumeni syndrome
- Li-Fraumeni syndrome (LFS)
- Ovarian cancer – familial
- Pancreatic Cancer
- Peutz-Jeghers syndrome
- PTEN hemartoma tumor syndrome
- Wilms tumor
Cardio Vascular Disorders
- Cardiac Disorders
- Lipid metabolism disorders
- Lipodystrophy
  - Lipodystrophy
- Vascular Malformations
Connective Tissue Disorders
- Aortic valve disease 1
- Arterial tortuosity syndrome
- Bone mineral density QTL18 – osteoporosis
- Brittle cornea syndrome
- Bruck syndrome
- Congenital contractural arachnodactyly
- Cutis laxa – autosomal dominant
- Cutis laxa – autosomal recessive – type IIB
- Cutis laxa autosomal dominant 2
- Cutis laxa autosomal recessive – Cutis laxa type IA
- Cutis laxa autosomal recessive – Cutis laxa type IB
- Cutis laxa autosomal recessive – Cutis laxa type IC
- Ectopia lentis
- Ehlers-Danlos syndrome – EDS
- Ehlers-Danlos syndrome kyphoscoliotic type
- Ehlers-Danlos syndrome type I – classic type
- Ehlers-Danlos syndrome type II – classic type
- Ehlers-Danlos syndrome vascular type
- Ehlers-Danlos syndrome with progressive kyphoscoliosis myopathy and hearing loss
- Geleophysic dysplasia
- Homocystinuria
- Hypophosphatasia
- Kniest dysplasia
- Larsen syndrome
- Loeys-Dietz syndrome type 1A
- Loeys-Dietz syndrome type 1B
- Loeys-Dietz syndrome type 2A
- Loeys-Dietz syndrome type 2B
- Loeys-Dietz syndrome type 3 – aneurysms-osteoarthritis syndrome
- Loeys-Dietz syndrome type 4
- Lysyl hydroxylase 3 deficiency
- Marfan Syndrome
- Marshall syndrome
- Metaphyseal chondrodysplasia Schmid type
- Multiple epiphyseal dysplasia
- Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects
- Multiple self-healing squamous epithelioma
- Osteogenesis imperfecta
- Osteogenesis imperfecta type IX
- Osteogenesis imperfecta type V
- Osteogenesis imperfecta type VIII
- Osteogenesis imperfecta type X
- Osteogenesis imperfecta type XII
- Osteoporosis – early onset
- Osteoporosis with fractures
- Osteoporosis-pseudoglioma syndrome
- Otospondylomegaepiphyseal dysplasia
- Porencephaly
- Spondylocheirodysplasia
- Spondyloepiphyseal dysplasia congenita
- Stickler syndrome
- Supravalvular aortic stenosis
- Thoracic Aortic Aneurysm with Dissection – TAAD
- van den Ende-Gupta syndrome
- Wagner syndrome
- Weill-Marchesani syndrome
- Weissenbacher-Zweymuller syndrome
Developmental Disorders
- 46XX sex reversal 1
- 46XY sex reversal 3
- 46XY sex reversal 5
- Congenital anomalies of kidney and urinary tract
- Fetal akinesia
- Fetal akinesia deformation sequence
- Jackson-Weiss syndrome
- Léri-Weill dyschondrosteosis
- SHORT STATURE – IDIOPATHIC – X-LINKED – ISS
Endocrine Disorders
- Albright hereditary osteodystrophy – AHO
- Aldosteronism glucocorticoid remediable – GRA – familial hyperaldosteronism type I
- Angelman syndrome – AS
- Bamforth Lazarus syndrome
- Central hypothyroidism
- Chondrodysplasia
- Diabetes mellitus permanent neonatal
- Fragile X syndrome
- Hyperaldosteronism familial type III
- Hyperinsulinemic hypoglycemia familial 1
- Hyperinsulinemic hypoglycemia familial 2
- Hyperinsulinemic hypoglycemia familial 3
- Hyperinsulinism
- Hyperinsulinism hyperammonemia syndrome
- Hyperthyroidism
- Hypothryoidism congenital nongoitrous 4
- Hypothyroidism
- Hypothyroidism central and testicular enlargement
- Hypothyroidism congenital due to thyroid dysgenesis or hypoplasia
- Hypothyroidism congenital nongoitrous 1
- Hypothyroidism congenital nongoitrous 4
- McCune Albright syndrome
- Microphthalmia syndromic 5
- Neonatal diabetes mellitus
- Obesity
- Obesity – morbid – due to leptin deficiency
- Obesity autosomal dominant
- Pendred syndrome with organification defect
- Pituitary hormone deficiency combined 1
- Pituitary hormone deficiency combined 2
- Pituitary hormone deficiency combined 3
- Pituitary hormone deficiency combined 4
- Pituitary hormone deficiency combined 6
- Prader Willi syndrome – PWS
- PseudohypoparathyreoÃ¯die type II
- Pseudohypoparathyroidism Ia
- Pseudohypoparathyroidism Ib
- Pseudopseudohypoparathyroidism
- Retinal dystrophy early onset and pituitary dysfunction
- Septooptic dysplasia
- Shwachman-Diamond syndrome – SBDS
- Thryoid dyshormonogenesis 5
- Thryoid dyshormonogenesis 6
- Thyroid adenoma hyperfunctioning somatic
- Thyroid dyshormonogenesis 1
- Thyroid dyshormonogenesis 2A
- Thyroid dyshormonogenesis 3
- Thyroid dyshormonogenesis 4
- Thyroid Hormone Resistance
- Thyroidal hypothyroidism
- Thyrotropin releasing hormone deficiency
- Thyrotropin releasing hormone resistance generalized
Eye Disorders
- Achromatopsia 2 – colorblindness
- Achromatopsia 3
- Albinism oculocutaneous type IA – OCA1A
- Albinism oculocutaneous type II – OCA2
- Albinism oculocutaneous type III – OCA3
- Albinism oculocutaneous type IV – OCA4
- Aniridia
- Arterial Calcification Generalized of Infancy – GACI1
- Axenfeld Rieger syndrome type 1 – RIEG1
- Axenfeld Rieger syndrome type 3 – RIEG3
- Basal laminar drusen
- Best macular dystrophy
- Cataract with late-onset corneal dystrophy
- Coloboma ocular
- Coloboma of optic nerve
- Cone-rod dystrophy 3
- Doyne Honeycomb degeneration of retina
- Ectopia lentis
- Enhanced S cone syndrome
- Foveal hyperplasia
- Gillespie syndrome
- Glaucoma 1 open angle E adult onset
- Glaucoma 1A primary open angle juvenile onset 1
- Glaucoma 3A primary open angle congenital juvenile or adult onset
- Hyperferritinemia-cataract syndrome
- Keratitis
- Leber congenital amaurosis 10 – LCA 10
- Leber congenital amaurosis 2
- Leber congenital amaurosis 8
- Leber hereditary optic neuropathy – LHON
- Macular degeneration juvenile
- Macular dystrophy patterned – Butterfly dystrophy of retinal pigment epithelium
- Microphthalmia syndromic 3
- Morning glory disc anomaly
- Night Blindness Congenital Statiionery Type 1E – CSNB1E
- Night blindness congenital stationary 1A X linked
- Night blindness congenital stationary 1B autosomal recessive
- Night blindness congenital stationary 1C autosomal recessive
- Night blindness congenital stationary 2A X linked
- Night blindness congenital stationary 2B autosomal recessive
- Ocular albinism type I – OA1
- Optic atrophy 1
- Optic atrophy 3 with cataract
- Optic nerve hypoplasia
- Optic nerve hypoplasia and abnormalities of the central nervous system
- Peters anomaly
- Pseudoxanthoma elasticum – PXE
- PXE-like disorder
- Retinitis pigmentosa
- Retinitis pigmentosa 12 autosomal recessive
- Retinitis pigmentosa 19
- Retinitis pigmentosa 2
- Retinitis pigmentosa 20
- Retinitis pigmentosa 25 – RP25
- Retinitis pigmentosa 3 – Retinitis pigmentosa 15 – Retinitis pigmentosa X linked
- Retinitis pigmentosa 37
- Retinitis pigmentosa 38 – RP38
- Retinitis pigmentosa 39 – RP39
- Retinitis pigmentosa 4 autosomal dominant or recessive
- Retinitis pigmentosa 40 – RP40
- Retinitis pigmentosa 43 – RP43
- Retinitis pigmentosa 7
- Retinoschisis – Retinoschisis X linked
- Stargardt disease 1
- Stargardt disease 3 – Stargardt like macular dystrophy
- Trichorhinophalangeal syndrome type I
- Trichorhinophalangeal syndrome type III
- TRP syndrome
- Vitreoretinochoroidopathy
Hematologic Disorders
- Blackfan-Diamond anemia
- Diamond-Blackfan anemia 1 – DBA1
- Diamond-Blackfan anemia 10 – DBA10
- Diamond-Blackfan anemia 3 – DBA3
- Diamond-Blackfan anemia 4 – DBA4
- Diamond-Blackfan anemia 5 – DBA5
- Diamond-Blackfan anemia 6 – DBA6
- Diamond-Blackfan anemia 7 – DBA7
- Diamond-Blackfan anemia 8 – DBA8
- Diamond-Blackfan anemia 9 – DBA9
- Fanconi anemia A – FANCA
- Fanconi anemia B – FANCB
- Fanconi anemia C – FANCC
- Fanconi anemia E – FANCE
- Fanconi anemia F – FANCF
- Fanconi anemia G – FANCG
- Fanconi anemia I – FANCI
- Fanconi anemia J – FANCJ
- Fanconi anemia L – FANCL
- Fanconi anemia M – FANCM
- Fanconi anemia N – FANCN
- Fanconi anemia O – FANCO
- Hemophilia A
- Methemoglobinemia – Cytochrome b5 reductase deficiency
- Neutropenia
- Neutropenia cyclic
- Neutropenia severe congenital 1 autosomal dominant
- Neutropenia severe congenital 2 autosomal dominant
- Neutropenia severe congenital 3 autosomal recessive
- Neutropenia severe congenital 4 autosomal recessive
- Neutropenia severe congenital X-linked
- Shwachman-Diamond syndrome – SBDS
Immunologic Disorders
- Angioedema hereditary type III
- Angioedema hereditary types I and II
- Hyper IgE recurrent infection syndrome autosomal recessive
- Hyper-IgD syndrome – Hyperimmunoglobulinaemia D and periodic fever
- Hyper-IgE recurrent infection syndrome
- Properdin deficiency X linked
- Vici syndrome
Liver and Bowel Disorders
- Cholestasis benign recurrent intrahepatic 1
- Cholestasis benign recurrent intrahepatic 2
- Cholestasis intrahepatic of pregnancy
- Cholestasis intrahepatic of pregnancy 3
- Cholestasis progressive familial intrahepatic 1
- Cholestasis progressive familial intrahepatic 2
- Cholestasis progressive familial intrahepatic 3
- Gallbladder disease 1 – LPAC syndrome
- Hypercholanemia familial – FHCA
Lymphatic Disorders
- Hennekam lymphangiectasia lymphedema syndrome – Hennekam syndrome
- Hypotrichosis-lymphedema-telangiectasia syndrome
- Lymphedema – hereditary
- Lymphedema-distichiasis syndrome
- Venous malformations
Malformations
- Cornelia de Lange syndrome
- Developmental Disorders
- Dysmorphology Disorders
- Genital anomalies
  - Denys Drash Syndrome – DDS
  - Frasier syndrome
- Growth Disorders
- Skeletal Disorders
  - Desbuquois dysplasia 2
  - Greenberg skeletal dysplasia – HEM skeletal dysplasia
Metabolic Disorders
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
- 3-hydroxyisobutyrate dehydrogenase deficiency
- 3-hydroxyisobutyryl-CoA hydrolase deficiency
- 3-methylcrotonyl-CoA carboxylase 1 deficiency – MCC1 deficiency
- 3-methylcrotonyl-CoA carboxylase 2 deficiency – MCC2 deficiency
- 3-methylglutaconyl-CoA hydratase deficiency – 3-methylglutacon aciduria type 1
- Acute recurrent rhabdomyolysis – Myoglobinuria acute recurrent
- Acyl-CoA oxidase deficiency
- Adenine phosphoribosyltransferase deficiency
- Adenosine deaminase deficiency
- Adrenoleukodystrophy X-linked
- Alpha-methylacyl-CoA racemase deficiency
- Argininosuccinate lyase deficiency
- Aromatic-L-amino-acid decarboxylase deficiency
- Beta-ureidopropionase deficiency
- Brown-Vialetto-Van Laere syndrome 1
- Brown-Vialetto-Van Laere syndrome 2 – Riboflavine transporter defect
- Carnitine palmitoyltransferase 2 deficiency
- Carnitine palmitoyltransferase I deficiency
- Carnitine-acylcarnitine translocase deficiency
- CHILD syndrome
- Chitotriosidase deficiency
- Chondrodysplasia punctata 2 – CDPX2 – Conradi-Hunermann-Happle syndrome
- CK syndrome
- D-bifunctional protein deficiency – DBPD
- Desmosterolosis
- Dihydropyrimidinase Deficiency
- Dihydropyrimidine dehydrogenase deficiency
- Dopa responsive dystonia
- Ethylmalonic encephalopathy
- Galactokinase deficiency
- Galactosemia
- Glutaric acidemia type IIA
- Glutaric acidemia type IIB
- Glutaric acidemia type IIC
- Glutaric aciduria type 1 – Glutaric acidemia type 1 – Glutaryl-CoA dehydrogenase deficiency
- Glycogen storage disease type 0 – GSD 0
- Glycogen storage disease X – Phosphoglycerate mutase deficiency muscle specific
- Hereditary fructose intolerance
- Holocarboxylase synthetase deficiency
- HPRT-related gout – Hypoxanthine-guanine phosphoribosyl transferase deficiency
- Hyperlysinemia
- Hypothyroidism
- Isovaleric acidemia – Isovaleryl-CoA dehydrogenase deficiency
- Lathosterolosis
- Lesch-Nyhan syndrome
- Lipid metabolism disorders
  - Cerebrotendinous xanthomatosis
  - Cholestasis
  - Chylomicron retention disease
  - Hyperalphalipoproteinemia
  - Hypertriglyceridemia
  - Hypoalphalipoproteinemia
  - Hypobetalipoproteinemia
- Lipodystrophy
- Lysosomal storage disorders
  - Danon disease
  - Fabry Disease
  - Gaucher disease
  - Niemann Pick disease type A
  - Niemann Pick disease type B
  - Niemann Pick disease type C1
  - Niemann Pick disease type C2
- Malignant hyperphenylalaninemia – GTP cyclohydrolase I deficiency
- Medium-chain acyl-Coenzyme A dehydrogenase deficiency
- Methylmalonyl-CoA epimerase deficiency – Methylmalonic aciduria III
- Mevalonate kinase deficiency
- Mevalonic aciduria
- Mitochondrial DNA depletion syndrome 9 – SUCLG1 deficiency
- Mitochondrial trifunctional protein deficiency
- Monocarboxylate transporter member 1 (MCT1) deficiency
- Multiple acyl-CoA dehydrogenase deficiency
- Niemann Pick disease type A
- Niemann Pick disease type B
- Niemann Pick disease type C1
- Niemann Pick disease type C2
- Peroxisome biogenesis disorder 10A
- Peroxisome biogenesis disorder 11A
- Peroxisome biogenesis disorder 12A
- Peroxisome biogenesis disorder 13A
- Peroxisome biogenesis disorder 14B
- Peroxisome biogenesis disorder 1A
- Peroxisome biogenesis disorder 3A
- Peroxisome biogenesis disorder 4A
- Peroxisome biogenesis disorder 5A
- Peroxisome biogenesis disorder 6A
- Peroxisome biogenesis disorder 7A
- Peroxisome biogenesis disorder 8A
- Peroxisome biogenesis disorder 9B – Refsum disease
- Phosphoribosyl pyrophosphate synthetase 1 superactivity
- Phytanoyl-CoA 2-hydroxylase deficiency – Refsum disease
- Primary carnitine deficiency
- Primary hyperoxaluria type 1
- Primary hyperoxaluria type II
- Primary hyperoxaluria type III
- Purine nucleoside phosphorylase deficiency
- Rhizomelic chondrodysplasia punctata type 1 – RCDP1
- Rhizomelic chondrodysplasia punctata type 2 – RCDP2
- Rhizomelic chondrodysplasia punctata type 3 – RCDP3
- Riboflavin deficiency
- Short Chain Acyl-CoA Dehydrogenase Deficiency
- Sjogren-Larsson syndrome
- Smith-Lemli-Opitz syndrome – SLOS
- SUCLA2 deficiency – Myopathic mitochondrial DNA depletion syndrome
- Thymidine phosphorylase deficiency – Mitochondrial neurogastrointestinal encephalomyopathy
- Tyrosine hydroxylase deficiency – Segawa syndrome
- Very-long-chain acyl-Coenzyme A dehydrogenase deficiency – VLCAD deficiency
- Zellweger spectrum disorders
- Zellweger syndrome
Muscle Disorders
- Cardiomyopathy
- Centronuclear myopathies recessive – CNM
- Core myopathy recessive – CM
- Degenerative myopathies
  - Emery Dreifuss muscular dystrophy
  - Limb-Girdle muscular dystrophy
- Dilated cardiomyopathy- DCM
- Emery Dreifuss muscular dystrophy
- Hereditary myopathy with early respiratory failure – HMERF
- Hypertrophic cardiomyopathy- HCM
- Limb-Girdle muscular dystrophy
- Muscular dystrophy
- Non Compaction Cardiomyopathy
- Restrictive Cardiomyopathy
Nephropathies
- Denys Drash Syndrome – DDS
- Frasier syndrome
- Wilms tumor
Neurological Disorders
- Aicardi-Goutières syndrome 1
- Aicardi-Goutières syndrome 2
- Aicardi-Goutières syndrome 3
- Aicardi-Goutières syndrome 4
- Aicardi-Goutières syndrome 5
- Aicardi-Goutières syndrome 6
- Alzheimer Disease
- Amyloidosis hereditary transthyretin-related
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis 1
- Amyotrophic lateral sclerosis 10 – ALS10
- Amyotrophic lateral sclerosis 10 – with or without FTD
- Amyotrophic lateral sclerosis 14 – ALS14
- Amyotrophic lateral sclerosis 4 juvenile – ALS4
- Amyotrophic lateral sclerosis 6 – ALS6
- Amyotrophic lateral sclerosis type 9 – ALS9
- Amyotrophy hereditary neuralgic
- Angelman syndrome – AS
- Ataxia-ocular apraxia 2-Spinocerebellar ataxia autosomal recessive 1- SCAR1
- Brown-Vialetto-Van Laere syndrome 1
- Brown-Vialetto-Van Laere syndrome 2 – Riboflavine transporter defect
- Charcot Marie Tooth – CMT
  - Charcot-Marie-Tooth disease – CMT NGS panel
  - Charcot-Marie-Tooth disease axonal type 2F – CMT2F
  - Charcot-Marie-Tooth disease axonal type 2K – CMT2K
  - Charcot-Marie-Tooth disease axonal type 2L – CMT2L
  - Charcot-Marie-Tooth disease axonal type 2M – CMT2M
  - Charcot-Marie-Tooth disease axonal type 2P – CMT2P
  - Charcot-Marie-Tooth disease type 1A – CMT1A
  - Charcot-Marie-Tooth disease type 1B – CMT1B
  - Charcot-Marie-Tooth disease type 1C – CMT1C
  - Charcot-Marie-Tooth disease type 1D – CMT1D
  - Charcot-Marie-Tooth disease type 1F – CMT1F
  - Charcot-Marie-Tooth disease type 2A2 – CMT2A2
  - Charcot-Marie-Tooth disease type 2B – CMT2B
  - Charcot-Marie-Tooth disease type 2B1 – CMT2B1
  - Charcot-Marie-Tooth disease type 2D – CMT2D
  - Charcot-Marie-Tooth disease type 2E – CMT2E
  - Charcot-Marie-Tooth disease type 2I – CMT2I
  - Charcot-Marie-Tooth disease type 2IJ – CMT2J
  - Charcot-Marie-Tooth disease Type 4A – CMT4A
  - Charcot-Marie-Tooth disease type 4B1 – CMT4B1
  - Charcot-Marie-Tooth disease type 4C – CMT4C
  - Charcot-Marie-Tooth disease type 4D – CMT4D
  - Charcot-Marie-Tooth disease type 4H – CMT4H
  - Charcot-Marie-Tooth disease type 4J – CMT4J
  - Charcot-Marie-Tooth disease X-linked dominant type 1 – CMT1C
- Choreoathetosis hypothyroidism and neonatal respiratory distress
- CNS Abnormalities
- Congenital cataracts facial dysmorphism and neuropathy – CCFDN
- Creutzfeldt Jakob disease
- Cystic leukoencephalopathy without megalencephaly
- Dementia – Lewy body
- Distal hereditary motor neuropathy type 5 – DHMN
- Dysautonomia familial – Riley Day syndrome
- Dystonia 1 torsion – DYT1
- Dystonia 11 myoclonic – DYT11
- Dystonia 6 torsion – DYT6
- Epileptic encephalopathy – early infantile – 11
- Epileptic encephalopathy – early infantile – 25
- Epileptic encephalopathy early infantile 2 – Rett syndrome atypical
- Familial Amyloid Polyneuropathy
- Fragile X syndrome
- Fragile X tremor/ataxia syndrome
- Frontotemporal Dementia – FTD
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 – FTDALS1
- Frontotemporal lobar degeneration with ubiquitin-positive inclusions
- Goiter familial due to TTF1 defect
- Hereditary benign chorea
- Hereditary motor and sensory neuropathy type IIc – HMSN2C
- Hypomyelination with Spondylometaphyseal Dysplasia
- Intellectual developmental disorder with dysmorphic facies and ptosis
- Intellectual Disability
  - Achondroplasia
  - Angelman syndrome – AS
  - Apert syndrome
  - Autism
  - Blepharophimosi ptosis and epicanthus inversus syndrome – BPES
  - Carpenter syndrome 1 – CRPT1
  - Cornelia de Lange syndrome
  - Cornelia de Lange syndrome 1 – CDLS1
  - Cornelia de Lange syndrome 2 – CDLS2
  - Cornelia de Lange syndrome 5 – CDLS5
  - Craniosynostosis 4
  - Crouzon syndrome
  - DiGeorge syndrome
  - Fragile X syndrome
  - Fragile X tremor/ataxia syndrome
  - Hypochondrioplasia
  - Jackson-Weiss syndrome
  - Langer Mesomelic dysplasia
  - Mental Retardation
  - Muenke syndrome
  - Nicolaides Baraitser syndrome
  - Pfeiffer syndrome
  - Prader Willi syndrome – PWS
  - Saethre-Chotzen syndrome – SCS
  - Supravalvular aortic stenosis
  - Thanatophoric Dysplasia
  - van der Woude Syndrome1-VWS1
  - Williams-Beuren syndrome
- L-Ferritin deficiency
- Mental retardation and microcephaly with pontine and cerebellar hypoplasia
- Microcephaly
- Microcephaly 1 primary autosomal recessive
- Microcephaly 5 primary autosomal recessive
- Microcephaly 6 primary autosomal recessive
- Microcephaly 7 primary autosomal recessive
- Myotubular myopathy X-linked
- Neurodegeneration with brain iron accululation 5
- Neurodegeneration with brain iron accumulation 1
- neurodegeneration with brain iron accumulation 2A
- Neurodegeneration with brain iron accumulation 2B
- Neurodegeneration with brain iron accumulation 3
- Neurodegeneration with brain iron accumulation 4
- Neurodegeneration with brain iron accumulation 6
- Neuropathy distal hereditary motor type IIA
- Neuropathy distal hereditary motor type IIB
- Neuropathy hereditary sensory and autonomic type IA – HSAN1A
- Neuropathy hereditary sensory and autonomic type II – HSAN IIA
- Neuropathy hereditary sensory and autonomic type V – HSAN V
- Neuropathy recurrent with pressure palsies – HNPP
- Parkinson Disease 1 Autosomal Dominant
- Parkinson Disease 2 Autosomal Recessive
- Parkinson Disease 4 Autosomal Dominant
- Parkinson Disease 6 Autosomal Recessive
- Parkinson Disease 7 Autosomal Recessive
- Parkinson Disease 8 Autosomal Dominant
- Peroxisome biogenesis disorder 10A
- Peroxisome biogenesis disorder 11A
- Peroxisome biogenesis disorder 12A
- Peroxisome biogenesis disorder 13A
- Peroxisome biogenesis disorder 14B
- Peroxisome biogenesis disorder 1A
- Peroxisome biogenesis disorder 3A
- Peroxisome biogenesis disorder 4A
- Peroxisome biogenesis disorder 5A
- Peroxisome biogenesis disorder 6A
- Peroxisome biogenesis disorder 7A
- Peroxisome biogenesis disorder 8A
- Pick disease
- Pontocerebellar hypoplasia – PCH
- Pontocerebellar hypoplasia type 1A – PCH1A
- Pontocerebellar hypoplasia type 1B – PCH1B
- Pontocerebellar hypoplasia type 2A – PCH2A
- Pontocerebellar hypoplasia type 2B – PCH2B
- Pontocerebellar hypoplasia type 2C – PCH2C
- Pontocerebellar hypoplasia type 2D – PCH2D
- Pontocerebellar hypoplasia type 4 – PCH4
- Pontocerebellar hypoplasia type 6
- Prader Willi syndrome – PWS
- Rett syndrome
- Rett syndrome congenital variant
- Riboflavin deficiency
- Scapuloperoneal spinal muscular atrophy
- Spinal muscular atrophy
- Tay Sachs disease
- Treatable Metabolic Neurodegenerative Disorders
- White Matter Disorders
  - Aicardi-Goutières syndrome 1
  - Aicardi-Goutières syndrome 2
  - Aicardi-Goutières syndrome 3
  - Aicardi-Goutières syndrome 4
  - Aicardi-Goutières syndrome 5
  - Aicardi-Goutières syndrome 6
  - Aicardi-Goutières syndrome 7
  - Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
  - Cystic leukoencephalopathy without megalencephaly
  - Hereditary diffuse leukoencephalopathy with spheroids
  - Hypomyelinating Leukodystrophy type 11 – 4H syndrome
  - Hypomyelinating Leukodystrophy type 16
  - Hypomyelinating Leukodystrophy type 2
  - Hypomyelinating Leukodystrophy type 3
  - Hypomyelinating Leukodystrophy type 4
  - Hypomyelinating Leukodystrophy type 5
  - Hypomyelinating Leukodystrophy type 6
  - Hypomyelinating Leukodystrophy type 7 – 4H syndrome
  - Hypomyelinating Leukodystrophy type 8
  - Leukodystrophy – adult-onset – autosomal dominant
  - Leukodystrophy – hypomyelinating – 14
  - Leukoencephalopathy – diffuse hereditary – with spheroids
  - Leukoencephalopathy with ataxia
  - Pelizaeus-Merzbacher disease
  - Spastic Paraplegia type 2 X linked
  - Spastic Paraplegia type 35
- Zellweger spectrum disorders
- Zellweger syndrome
Pulmonary Disease
- Ciliary dyskinesia – primary – 1 – with or without situs inversus
- Ciliary dyskinesia – primary – 2
- Ciliary dyskinesia – primary – 3 – with or without situs inversus
- Ciliary dyskinesia – primary – 5
- Ciliary dyskinesia – primary – 7 – with or without situs inversus
- Ciliary dyskinesia – primary – 9 – with or without situs inversus
- Cystic Fibrosis
- Pulmonary hypertension – PPH1
- Pulmonary hypertension – PPH2
- Surfactant protein B deficiency – pulmonary surfactant metabolism dysfunction
Reproductive Genetics & Infertility
- Infertility
- Reproductive Genetics
Skin Disorders
- Basal Cell Nevus Syndrome – BCNS – Gorlin syndrome
- Birt-Hogg-Dubé syndrome
- Goltz-Gorlin Syndrome – Focal Dermal Hypoplasia – FDH
- Hypotrichosis-lymphedema-telangiectasia syndrome
Uncategorized
Urological Disorders
- Congenital anomalies of kidney and urinary tract
- Oligospermia
- Oligozoospermia

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